A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241995



Internal ID22375132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:55492215..55537321hg38UCSC Ensembl
Outerchr17:53569576..53614682hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261651
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241995
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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